Rodolfo Tonin and colleagues present a study done on 12 Short-chain acyl-coA dehydrogenase deficiency (SCADD) patients carrying 11 new ACADS variants, with the purpose of defining genotype-phenotype correlations based on clinical data, metabolite evaluation, molecular analyses, and in silico functional analyses. They identified a synonymous variant, c.765G> T (p.Gly255Gly) that influences ACADS mRNA splicing accuracy and leads to an aberrant splicing product, harbouring a premature stop codon.
Tonin, Rodolfo et al. BBA Clinical.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague